Related gene-specific medical variations for Gene (Select 26093) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285985	NM_178511.6(INAFM1):c.277C>G (p.Leu93Val)	CCDC9, INAFM1 +1 more (L93V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109603	NM_178511.6(INAFM1):c.94C>G (p.Pro32Ala)	CCDC9, INAFM1 +1 more (P32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109602	NM_178511.6(INAFM1):c.377G>T (p.Arg126Leu)	CCDC9, INAFM1 (R126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109601	NM_178511.6(INAFM1):c.364C>T (p.Arg122Cys)	CCDC9, INAFM1 (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109600	NM_178511.6(INAFM1):c.290T>C (p.Leu97Pro)	CCDC9, INAFM1 +1 more (L97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109599	NM_178511.6(INAFM1):c.133G>A (p.Val45Met)	CCDC9, INAFM1 +1 more (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650146	NC_000019.10:g.47273406G>A	CCDC9, LOC130064806	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2617919	NM_178511.6(INAFM1):c.139C>G (p.Leu47Val)	CCDC9, INAFM1 +1 more (L47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589259	NM_178511.6(INAFM1):c.380A>G (p.Gln127Arg)	CCDC9, INAFM1 (Q127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515322	NM_178511.6(INAFM1):c.8G>A (p.Gly3Glu)	CCDC9, INAFM1 +1 more (G3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493856	NM_178511.6(INAFM1):c.371C>T (p.Pro124Leu)	CCDC9, INAFM1 (P124L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2491205	NM_178511.6(INAFM1):c.350A>G (p.Tyr117Cys)	CCDC9, INAFM1 (Y117C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485227	NM_178511.6(INAFM1):c.14G>C (p.Ser5Thr)	CCDC9, INAFM1 +1 more (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466148	NM_178511.6(INAFM1):c.149A>G (p.Tyr50Cys)	CCDC9, INAFM1 +1 more (Y50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455339	NM_178511.6(INAFM1):c.251C>G (p.Pro84Arg)	CCDC9, INAFM1 +1 more (P84R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406321	NM_178511.6(INAFM1):c.356A>G (p.Asp119Gly)	CCDC9, INAFM1 (D119G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386130	NM_178511.6(INAFM1):c.260C>T (p.Ala87Val)	CCDC9, INAFM1 +1 more (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349830	NM_178511.6(INAFM1):c.218C>T (p.Ser73Phe)	CCDC9, INAFM1 +1 more (S73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343948	NM_178511.6(INAFM1):c.239C>G (p.Pro80Arg)	CCDC9, INAFM1 +1 more (P80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330281	NM_178511.6(INAFM1):c.230C>G (p.Ala77Gly)	CCDC9, INAFM1 +1 more (A77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247111	NM_178511.6(INAFM1):c.145G>A (p.Val49Met)	CCDC9, INAFM1 +1 more (V49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246701	NM_178511.6(INAFM1):c.157C>T (p.Leu53Phe)	CCDC9, INAFM1 +1 more (L53F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 22